L51L (p.Leu51Leu) variant of SOX10 (Transcription factor SOX-10)
L51L (p.Leu51Leu) in SOX10 (Transcription factor SOX-10) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L51L (p.Leu51Leu) variant details
- p.Leu51Leu
- gnomAD 22-37970985-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 3.30
- Population evidence available
- Structural context available
- Literature evidence available